A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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More information
Scope and Contents
Contents
In two siblings, who suffer from an early childhood-onset axonal polyneuropathy with exclusive involvement of motor fibers, the c.629T>C (p.F210S) mutation was identified in the X-linked
AIFM1
gene, which encodes for the apoptosis-inducing factor (AIF). The mutation was predicted as deleterious, according to in silico analysis. A decreased ex...
Alternative Titles
Full title
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
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Record Identifier
TN_cdi_proquest_miscellaneous_1947097066
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1947097066
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-017-0524-6
